Variant report

Variant	nsv563094
Chromosome Location	chr13:110436735-110439594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:744)
CpG islands
(count:979)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:110439189-110439250	K562	blood:	n/a	n/a
2	BACH1	chr13:110436949-110437136	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:110437536-110437689	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
7	BHLHE40	chr13:110438776-110439348	K562	blood:	n/a	n/a
8	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr13:110437026-110437199	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
11	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
12	CEBPB	chr13:110438843-110439089	A549	lung:	n/a	n/a
13	CEBPB	chr13:110436946-110437196	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr13:110438849-110439087	K562	blood:	n/a	n/a
18	CEBPB	chr13:110439589-110439732	K562	blood:	n/a	n/a
19	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
20	CEBPD	chr13:110438727-110439506	K562	blood:	n/a	n/a
21	CHD1	chr13:110438877-110438980	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr13:110436801-110438434	IMR90	lung:	n/a	n/a
23	CHD1	chr13:110437579-110437779	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr13:110438864-110439256	GM12878	blood:	n/a	chr13:110439010-110439020
25	CHD2	chr13:110438718-110440183	Hela-S3	cervix:	n/a	chr13:110439684-110439694 chr13:110439010-110439020 chr13:110439279-110439289
26	CHD2	chr13:110438857-110439319	H1-hESC	embryonic stem cell:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
27	CHD2	chr13:110438856-110439323	K562	blood:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
28	CHD2	chr13:110436949-110438473	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr13:110438768-110439230	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr13:110438822-110439083	HepG2	liver:	n/a	n/a
31	CREB1	chr13:110438778-110439142	HepG2	liver:	n/a	n/a
32	CREB1	chr13:110438804-110439309	K562	blood:	n/a	n/a
33	CREB1	chr13:110438766-110439273	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr13:110438800-110439246	K562	blood:	n/a	n/a
35	CREB1	chr13:110438661-110439476	A549	lung:	n/a	n/a
36	CREB1	chr13:110438830-110439151	A549	lung:	n/a	n/a
37	CREB1	chr13:110436877-110437326	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr13:110436531-110437309	A549	lung:	n/a	n/a
39	CREB1	chr13:110437576-110438325	A549	lung:	n/a	n/a
40	CTCF	chr13:110437400-110437550	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr13:110437620-110437770	HAc	cerebellar:	n/a	n/a
42	CTCF	chr13:110437080-110437230	GM12867	blood:	n/a	n/a
43	CTCF	chr13:110437040-110437190	GM12869	blood:	n/a	n/a
44	CTCF	chr13:110437080-110437230	BE2_C	brain:	n/a	n/a
45	CTCF	chr13:110437030-110437218	A549	lung:	n/a	n/a
46	CTCF	chr13:110437080-110437230	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr13:110437460-110437610	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr13:110437870-110438148	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:110437040-110437190	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr13:110439520-110439670	WERI-Rb-1	eye:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110439006-110439056	Hepatocyte	liver:	n/a
2	chr13:110436740-110436790	BJ	skin:	n/a
3	chr13:110439234-110439284	MCF-7	breast:	n/a
4	chr13:110439006-110439056	Hepatocyte	liver:	n/a
5	chr13:110436740-110436790	BJ	skin:	n/a
6	chr13:110439234-110439284	MCF-7	breast:	n/a
7	chr13:110439234-110439284	Jurkat	blood:	n/a
8	chr13:110438935-110438985	GM12892	blood:	n/a
9	chr13:110438916-110438966	HCF	heart:	n/a
10	chr13:110439453-110439503	SKMC	muscle:	n/a
11	chr13:110436780-110436830	BE2_C	brain:	n/a
12	chr13:110438935-110438985	SK-N-SH	brain:	n/a
13	chr13:110438935-110438985	HCM	heart:	n/a
14	chr13:110438578-110438628	HCPEpiC	choroid plexus:	n/a
15	chr13:110439234-110439284	AG04450	lung:	fetal
16	chr13:110438256-110438306	SAEC	small airway:	n/a
17	chr13:110439004-110439054	HRCEpiC	kidney:	n/a
18	chr13:110438578-110438628	LNCaP	prostate:	n/a
19	chr13:110438288-110438338	PANC-1	pancreas:	n/a
20	chr13:110438916-110438966	HRPEpiC	eye:	n/a
21	chr13:110438578-110438628	GM19239	blood:	n/a
22	chr13:110436740-110436790	HRPEpiC	eye:	n/a
23	chr13:110439453-110439503	PFSK-1	brain:	n/a
24	chr13:110439006-110439056	SKMC	muscle:	n/a
25	chr13:110438288-110438338	GM12892	blood:	n/a
26	chr13:110439004-110439054	SK-N-SH_RA	brain:	n/a
27	chr13:110438578-110438628	GM12891	blood:	n/a
28	chr13:110437561-110437611	AG04450	lung:	fetal
29	chr13:110437561-110437611	A549	lung:	n/a
30	chr13:110437561-110437611	MCF-7	breast:	n/a
31	chr13:110436740-110436790	PrEC	prostate:	n/a
32	chr13:110436740-110436790	SK-N-MC	brain:	n/a
33	chr13:110439004-110439054	ovcar-3	ovarian:	n/a
34	chr13:110436780-110436830	HPAEpiC	pulmonary alveolar:	n/a
35	chr13:110438937-110438987	AG09319	gingival:	n/a
36	chr13:110439234-110439284	IMR90	lung:	fetal
37	chr13:110439234-110439284	HCPEpiC	choroid plexus:	n/a
38	chr13:110438578-110438628	CMK	blood:	n/a
39	chr13:110437759-110437809	HEK293	kidney:	embryo
40	chr13:110438916-110438966	BJ	skin:	n/a
41	chr13:110438288-110438338	GM12878	blood:	n/a
42	chr13:110436780-110436830	AG04449	skin:	fetal
43	chr13:110437561-110437611	GM06990	blood:	n/a
44	chr13:110439453-110439503	ECC-1	luminal epithelium:	n/a
45	chr13:110438937-110438987	HEK293	kidney:	embryo
46	chr13:110439453-110439503	SAEC	small airway:	n/a
47	chr13:110438916-110438966	PrEC	prostate:	n/a
48	chr13:110437093-110437143	MCF10A-Er-Src	breast:	n/a
49	chr13:110439004-110439054	PrEC	prostate:	n/a
50	chr13:110439004-110439054	PANC-1	pancreas:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:21347448..21348138-chr13:110438450..110439192,2	NB4	blood:
2	chr13:110438443..110438962-chr16:2285162..2286129,2	NB4	blood:
3	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
4	chr13:52026999..52027561-chr13:110438389..110438889,2	NB4	blood:
5	chr13:110438627..110439624-chr2:32502857..32503409,2	NB4	blood:
6	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
7	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
8	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
9	chr13:110435545..110437326-chr13:110470827..110473616,2	K562	blood:
10	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
11	chr13:110262551..110263536-chr13:110436991..110438083,3	MCF-7	breast:
12	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
13	chr13:109797639..109798548-chr13:110436659..110437260,3	MCF-7	breast:
14	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
15	chr13:110437609..110438511-chr2:70520669..70521396,2	Hela-S3	cervix:
16	chr13:110437956..110438456-chr2:100106242..100106983,2	K562	blood:
17	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
18	chr13:110439033..110439968-chr7:104653218..104653931,2	NB4	blood:
19	chr13:110438834..110439674-chr3:197686852..197687479,2	Hela-S3	cervix:
20	chr13:110438490..110439006-chr6:26216450..26217232,2	Hela-S3	cervix:
21	chr13:110436747..110437632-chr2:157188777..157189594,2	Hela-S3	cervix:
22	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
23	chr13:110372207..110373827-chr13:110434766..110436789,2	K562	blood:
24	chr1:145382581..145383105-chr13:110438820..110439782,2	Hela-S3	cervix:
25	chr13:110079830..110080650-chr13:110436980..110437762,2	MCF-7	breast:
26	chr13:110336875..110340182-chr13:110433980..110437911,3	K562	blood:
27	chr13:110439300..110440162-chr3:50336111..50336962,2	Hela-S3	cervix:
28	chr13:45010548..45011431-chr13:110438404..110439086,2	Hela-S3	cervix:
29	chr13:110372327..110374107-chr13:110434766..110436742,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120

No data

Variant related genes	Relation type
IRS2	TF binding region
IRS2	CpG island
ENSG00000243477	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000185621	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000167968	chromatin interactions
ENSG00000225727	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000114473	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000087095	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000136243	chromatin interactions
ENSG00000102804	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000153234	chromatin interactions
ENSG00000153487	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538495683	chr13:110436744-110436745	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377019243	chr13:110436751-110436752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558221849	chr13:110436768-110436769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191567006	chr13:110436778-110436779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373800038	chr13:110436780-110436781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs367717168	chr13:110436799-110436800	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367592112	chr13:110436867-110436868	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs370070067	chr13:110436879-110436880	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs374058377	chr13:110436889-110436890	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554521999	chr13:110436891-110436892	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572999394	chr13:110436922-110436923	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112538656	chr13:110436949-110436950	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs543264637	chr13:110437189-110437190	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556582071	chr13:110437233-110437234	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs367981041	chr13:110437448-110437449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs372009365	chr13:110437468-110437469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs375162215	chr13:110437504-110437505	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs576704797	chr13:110437516-110437517	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138814607	chr13:110437522-110437523	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368818571	chr13:110437549-110437550	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142923213	chr13:110437777-110437778	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs199639786	chr13:110437802-110437803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs527813294	chr13:110437864-110437865	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541185029	chr13:110437892-110437893	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561296790	chr13:110437907-110437908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530047420	chr13:110438013-110438014	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs372818543	chr13:110438032-110438033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs147430414	chr13:110438056-110438057	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs550048273	chr13:110438059-110438060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569892769	chr13:110438062-110438063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs141020593	chr13:110438089-110438090	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs551982368	chr13:110438150-110438151	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs372367471	chr13:110438205-110438206	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532810290	chr13:110438316-110438317	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs375606114	chr13:110438374-110438375	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565561954	chr13:110438523-110438524	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs186414753	chr13:110438574-110438575	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs565491615	chr13:110438849-110438850	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs554375638	chr13:110439007-110439008	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs568001567	chr13:110439019-110439020	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs536693260	chr13:110439051-110439052	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs189870988	chr13:110439157-110439158	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs9515121	chr13:110439165-110439166	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545595064	chr13:110439309-110439310	Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs559164294	chr13:110439430-110439431	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs182125105	chr13:110439451-110439452	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs188056596	chr13:110439454-110439455	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs561275512	chr13:110439472-110439473	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs530099169	chr13:110439507-110439508	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs12858484	chr13:110439564-110439565	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr13:110430800-110436800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
8	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Ovary	ovary
10	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
11	chr13:110433400-110436800	Transcr. at gene 5' and 3'	Left Ventricle	heart
12	chr13:110433400-110437600	Transcr. at gene 5' and 3'	Right Ventricle	heart
13	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
15	chr13:110433800-110436800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
16	chr13:110434000-110436800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:110434000-110436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:110434000-110437000	Enhancers	Fetal Brain Male	brain
19	chr13:110434000-110437200	Weak transcription	Primary T cells from cord blood	blood
20	chr13:110434000-110437600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:110434000-110440200	Active TSS	Hela-S3	cervix
22	chr13:110434200-110437400	Weak transcription	Fetal Lung	lung
23	chr13:110434400-110436800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:110434400-110436800	Weak transcription	NHDF-Ad	bronchial
25	chr13:110434400-110437000	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr13:110434400-110437400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:110434400-110437400	Weak transcription	Fetal Kidney	kidney
28	chr13:110434400-110440200	Active TSS	HSMM	muscle
29	chr13:110434800-110436800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:110435000-110436800	ZNF genes & repeats	Thymus	Thymus
31	chr13:110435000-110440400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:110435600-110439000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:110435800-110436800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
34	chr13:110435800-110436800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
35	chr13:110435800-110436800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
36	chr13:110435800-110437000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:110435800-110437000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
38	chr13:110435800-110437000	Transcr. at gene 5' and 3'	Lung	lung
39	chr13:110435800-110437000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
40	chr13:110435800-110438400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr13:110435800-110440400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr13:110436000-110436800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
43	chr13:110436000-110436800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
44	chr13:110436000-110436800	Flanking Active TSS	HMEC	breast
45	chr13:110436000-110437000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:110436000-110437400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr13:110436000-110437800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr13:110436000-110439800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:110436000-110440400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr13:110436000-110440600	Active TSS	HUES48 Cell Line	embryonic stem cell

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